Canonical Allele Identifier: CA2579390526

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235441-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235443del , CM000671.2:g.96235443del	GRCh38
NC_000009.11:g.98997725del , CM000671.1:g.98997725del	GRCh37
NC_000009.10:g.98037546del	NCBI36
NG_008157.1:g.71711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375263.8:c.*18del MANE Select	ENSP00000364412.3:n.*18del
ENST00000463517.2:n.2493del
ENST00000464104.6:n.1889del
ENST00000467499.6:c.*650del	ENSP00000498077.1:n.*650del
ENST00000494814.6:n.501del
ENST00000643789.1:c.3243del
ENST00000375262.3:c.*18del	ENSP00000364411.2:n.*18del
ENST00000375263.7:c.*18del	ENSP00000364412.3:n.*18del
ENST00000464104.5:n.804del
ENST00000467499.5:n.211del
ENST00000494814.5:n.510del
NM_000197.1:c.*18del	NP_000188.1:n.*18del
XM_005251970.3:c.*18del	XP_005252027.1:n.*18del
XM_011518618.1:c.*18del	XP_011516920.1:n.*18del
XM_011518619.1:c.*18del	XP_011516921.1:n.*18del
XM_011518620.1:c.*18del	XP_011516922.1:n.*18del
NM_000197.2:c.*18del MANE Select	NP_000188.1:n.*18del
XM_011518618.2:c.*18del	XP_011516920.1:n.*18del
XM_011518619.2:c.*18del	XP_011516921.1:n.*18del
XM_017014671.1:c.*18del	XP_016870160.1:n.*18del
XM_017014672.1:c.*18del	XP_016870161.1:n.*18del
XM_017014673.2:c.*18del	XP_016870162.1:n.*18del
XM_017014674.1:c.*18del	XP_016870163.1:n.*18del
XM_017014675.1:c.*18del	XP_016870164.1:n.*18del
XM_017014677.1:c.*18del	XP_016870166.1:n.*18del
XM_024447529.1:c.*18del	XP_024303297.1:n.*18del
XR_002956778.1:n.3423del